The Association of BRD2 with Juvenile Myoclonic Epilepsy
Abstract
Idiopathic generalized epilepsy (IGE) constitutes a variety of epileptic disorders in humans, the most common being juvenile myoclonic epilepsy (JME). There is strong evidence that JME can be caused by a faulty genetic variation in the human gene bromodomain-containing protein 2 (BRD2). For this reason, many studies on BRD2 homologues have been conducted to determine the function of this protein. Studies on human BRD2 have revealed that certain polymorphisms in non-coding regions near the promoter are associated with JME. Knock-out experiments in mice reveal that the Brd2 deficient mice are smaller, display embryonic lethality, have slower cell proliferation in mouse embryonic fibroblasts and display defects during neurogenesis. Furthermore, studies in zebrafish confirm that Brd2 has a role in the development of vertebrates.
Introduction
Juvenile myoclonic epilepsy (JME) is a form of idiopathic generalized epilepsy (IGE). JME is characterized by monoclonic seizures, which consists of small jerks of the arms, shoulders and sometimes legs. It accounts for 26% of all IGEs and begins by late childhood or early adolescence1. Many forms of IGEs have been linked to a single genetic mutation that follows Mendelian Inheritance; however it appears that there is a more complex mechanism that causes JME2,3. Another insight on the causation of this disorder is that there are many genes associated with JME, in particular the EJM1 locus on chromosome 6, as shown by Greenberg and collegues by linkage analysis4. EJM1 was later found to include bromodomain-containing protein 2 (BRD2)1,3,5. BRD2 has been characterized as a transcriptional activator of proteins involved in the cell cycle6. This has generated an interest in determining the function of BRD2 in embryogenesis. Researchers studying orthologs of BRD2 have discovered a role in brain development7,8,9 and this knowledge might help... [continues]
Abstract
Idiopathic generalized epilepsy (IGE) constitutes a variety of epileptic disorders in humans, the most common being juvenile myoclonic epilepsy (JME). There is strong evidence that JME can be caused by a faulty genetic variation in the human gene bromodomain-containing protein 2 (BRD2). For this reason, many studies on BRD2 homologues have been conducted to determine the function of this protein. Studies on human BRD2 have revealed that certain polymorphisms in non-coding regions near the promoter are associated with JME. Knock-out experiments in mice reveal that the Brd2 deficient mice are smaller, display embryonic lethality, have slower cell proliferation in mouse embryonic fibroblasts and display defects during neurogenesis. Furthermore, studies in zebrafish confirm that Brd2 has a role in the development of vertebrates.
Introduction
Juvenile myoclonic epilepsy (JME) is a form of idiopathic generalized epilepsy (IGE). JME is characterized by monoclonic seizures, which consists of small jerks of the arms, shoulders and sometimes legs. It accounts for 26% of all IGEs and begins by late childhood or early adolescence1. Many forms of IGEs have been linked to a single genetic mutation that follows Mendelian Inheritance; however it appears that there is a more complex mechanism that causes JME2,3. Another insight on the causation of this disorder is that there are many genes associated with JME, in particular the EJM1 locus on chromosome 6, as shown by Greenberg and collegues by linkage analysis4. EJM1 was later found to include bromodomain-containing protein 2 (BRD2)1,3,5. BRD2 has been characterized as a transcriptional activator of proteins involved in the cell cycle6. This has generated an interest in determining the function of BRD2 in embryogenesis. Researchers studying orthologs of BRD2 have discovered a role in brain development7,8,9 and this knowledge might help... [continues]
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(2010, 12). The Association of Brd2 with Juvenile Myoclonic Epilepsy. StudyMode.com. Retrieved 12, 2010, from http://www.studymode.com/essays/The-Association-Of-Brd2-With-Juvenile-513527.html
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"The Association of Brd2 with Juvenile Myoclonic Epilepsy." StudyMode.com. 12, 2010. Accessed 12, 2010. http://www.studymode.com/essays/The-Association-Of-Brd2-With-Juvenile-513527.html.
